Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome

Phelan-McDermid syndrome (PMS) is a multi-system disorder characterized by significant variability in clinical presentation. The genetic etiology is also variable with differing sizes of deletions in the chromosome 22q13 region and types of genetic abnormalities (e.g., terminal or interstitial delet...

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Veröffentlicht in:PLoS One
Hauptverfasser: Srikanth, Sujata, Jain, Lavanya, Zepeda-Mendoza, Cinthya, Cascio, Lauren, Jones, Kelly, Pauly, Rini, DuPont, Barb, Rogers, Curtis, Sarasua, Sara, Phelan, Katy, Morton, Cynthia, Boccuto, Luigi
Format: Artigo
Sprache:Inglês
Veröffentlicht: Public Library of Science 2021
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Research Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC8259982/
https://ncbi.nlm.nih.gov/pubmed/34228749
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0253859
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